Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs1553263326
NTRK1
1.000 1 156881446 intron variant G/A snv 2
rs1555943503
RPS6KA3
1.000 X 20195156 intron variant T/C snv 2
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 19
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs786204929
PTEN
0.752 0.200 10 87933144 stop gained G/A;T snv 12
rs121908119
WNT10A ; LOC107984111
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 10
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs775104326
CTNNB1
0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 10
rs104894419
LIG4
0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 8
rs199469464
SRCAP
0.807 0.200 16 30737370 stop gained C/T snv 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8
rs376526037
ERCC6
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05 8
rs1131692154
SYNGAP1
0.925 0.160 6 33432700 stop gained C/T snv 6
rs199821421
CREBBP
0.827 0.160 16 3728723 stop gained G/A;T snv 5.2E-05 6
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv 5
rs137853229
RECQL4
0.851 0.240 8 144513412 stop gained G/A snv 1.2E-04 8.4E-05 5
rs185142838
ERCC6
0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 5
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
rs587783685
KMT2D
0.925 0.120 12 49032113 stop gained G/A snv 5
rs116128702
DNAH5
1.000 5 13923369 stop gained C/A;G;T snv 4.0E-06; 2.4E-05 4
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs137852217
AMER1
0.925 0.040 X 64192215 stop gained G/A;T snv 1.6E-05 4